Dr. Casanova earned her doctorate in Anatomical Sciences & Neurobiology from the University of Louisville’s Medical School. She then did her postdoctoral fellowship at the University of South Carolina. Currently, she is an Assistant Professor of Neuroscience at Loyola University, New Orleans. She has research background in neurobiology, genetics, and computer science, with particular foci on neurodevelopmental conditions such as autism and connective tissue disorders like Ehlers-Danlos Syndrome (EDS)/Hypermobility Spectrum Disorders (HSD).
Her current research foci are: 1) the overlap between autism and EDS/HSD, and 2) the evolution of autism genes. She also studies the evolution of dosage sensitive genes (e.g., autism genes) and their potential roles in macroevolution.
In addition to her research interests in EDS/HSD, she is a zebra herself 🦓 and is passionate about patient advocacy.
I’m referring a curious young reader (and her father) to you and your site. For reference, please see :
Cheers to you!
I look forward to hearing from them. By the way, happy holidays, proximity! Nice to see you pop in every once in awhile. 🙂
I saw your TED Talk and teared up. I am forwarding it to all my friends who have kids with LD’s. My daughter loves Science and reads about it all the time. I will forward your Blog to her as well. She is 10, still young but I am sure she will love the articles you have written.
Hi, yaminimudaliar. I’m glad you’ve enjoyed the site so far. Although unfortunately I’ve yet to make any TED talk, so I’m not exactly certain who you may be confusing me with. But in any case, I hope your daughter enjoys the blog! 🙂
How can I delete one of my replies?
The one about fundamentalist churches please, in the Copernican feed.
I just read an article about your research. I am very interested as I have two children on the autism spectrum. One has Marfan like traits and I am just starting on the journey of discovery about this aspect of his health. I am looking for direction, information and any insight! I hope you respond here. Thank you
Hi, Janna. Marfan-like (Marfanoid) features can also occur with Hypermobile Ehlers-Danlos Syndrome (hEDS). If you suspect your child has Marfanoid traits, I highly recommend you talk to his pediatrician and get a referral to a genetics clinic for testing. It’s important to rule out something like Marfan’s and the heart issues that often accompany it. hEDS can sometimes have heart issues too but they tend to be less severe than Marfan’s syndrome. In any case, it’s a good idea to see a geneticist for a clinical assessment and genetic testing. If he does get either of these diagnoses, it will be important he gets consistent check-ups on his heart (among other things of course). I’ve typically heard knowledgeable recommend an echocardiogram at least every few years for people with these hereditary connective tissue disorders. Hope the information helps! 🙂
Thank you. We have an eco scheduled. We’ll see where that info leads. My guy is very interested in research and has always had quite an interest in paleontology as well. It was neat reading your bio and finding similarities. If you’re in need of research subjects, it seems like he may fall into your data set.
(We live in Virginia)
Thank you for the reply!
Not too far from us! I usually post adverts for some of my research studies here on the blog, so just following the blog is an easy way to keep up. Our current study is pretty limited though because we’re studying moms of kiddoes with autism and/or ADHD who are seen by our local pediatrics clinic, so that unfortunately prevents people from outside the area joining in the study. But hopefully this is just the first of many. 🙂
Hi Emily, I happened to find your blog and see you are in Greenville, SC. I’m trying to find help for my brother who lives in Greenville, SC as well. Can you recommend any treatment/testing facilities that are knowledgeable in Autism/Aspergers.? My brother is 58 and never officially diagnosed since he has extreme anxiety. He has recently lost 70 pounds (he was not overweight)and all medical tests have come back negative which is good. The doctors are suggesting a psychiatrist. I thought you may have some good information for me on where to refer him. Thank you.
Hi, Sally. Unfortunately I don’t get to interact with too many adults in the area and am not familiar with their services. But I will ask some of the docs/psychologists in my office who I suspect have more knowledge. Does your brother have any other symptoms, like more recent GI problems associated with the weight loss? Have they tested for diabetes? Is he on any meds that could have this effect? Has he gone to see an internist? It sounds like, even though the labs are showing within normal range, the doctor(s) is clearly missing something major. 70lb weight loss is definitely not normal, especially when said person isn’t trying to lose weight.
Our SLP shared your article with us as we have a son who is 5 with nonverbal autism. I was diagnosed with EDS-hypermobility when I was pregnant with him.
I’m so interested to learn more about all of it!
Hi, Maureen! The overlap between these two conditions is of rapidly growing interest to the autism and EDS communities. Unfortunately, research has been slow to answer but I hope that will start to change over the coming years.
I’m really glad the article resonated with your family. I usually post about new publications here on the blog, so this is a good way to follow our work for any new additions.
Thanks for your interest!! 🙂
Hi Emily. This is not about your research area, but about something else. I was reading about Covid long-haul syndrome and ran across a comment of yours on a JAMA article. I am going to copy it below, because it is an exquisite expression of something very true to my own experience. I am really grateful for this insightful, clear, and compassionate comment amid a sea of ignorance and dismissiveness. I have been severely disabled by ME/CFS since 2004, and I’m having such complicated feelings about the sudden interest in post-Covid syndrome. I live in Philadelphia (big research region), but I’ve never had a doctor to treat my ME/CFS. It’s been a long, lonely journey. And now it appears at first glance that I won’t be given access to the rehabilitation clinics springing up for post-Covid syndrome. So I’m having a bit of a resurgence of my trauma. But I’m also beginning to allow myself to hope that I may at last be able to get access to some kind of knowledgeable care. If you know anything about this, I’d love to hear your thoughts. Meanwhile, here is your beautiful comment from JAMA:
September 24, 2020
Postviral syndromes are not new
Emily Casanova, PhD, Biomedical Science | University of South Carolina
The recognition of postviral syndromes is not new to the chronic illness community and the clinicians who treat them and scientists who study them, nor is the extreme sex-skewed nature of these conditions. While an endotheliopathy may indeed be an important consideration, the extreme sex-skewed nature of this particular postviral syndrome suggests that, like its idiopathic counterparts, differences in immune activation between the sexes are likely key in many cases. For instance, innate immune/autoimmune disorders are often triggered by viral infection, severe injury, surgery, pregnancy, and even severe emotional stress. Therefore, viewing this postviral syndrome under the framework of other syndromes such as ME/CFS, POTS, MCAD, etc., could still be useful to clinicians and scientists studying this subpopulation, at least during early days. Most of these idiopathic conditions are not considered primary disorders anyways and are undoubtedly very heterogeneous in nature, but they are useful labels that help direct patient care and predict outcomes.
On a separate note to clinicians, please be cautious about psychosomaticizing patients presenting with these symptoms as gas-lighting has the potential to cause significant harm to the patient that cannot be easily undone, both in terms of psychological trauma (many chronically ill patients suffer from medically-induced PTSD) and additional harm due to potentially inaccurate/incomplete psychiatric diagnoses that can follow a patient on her/his chart for years, permanently affecting her/his quality of care in future. This is an extremely common problem for many women, in particular, with chronic illnesses that we as clinicians and scientists need to take even greater caution to avoid.
As with many immune disorders, immune modulators can have significant neuroactive effects (e.g., febrile seizures as an extreme example, the result of IL-1 activity) and anxiety/depression can often be symptomatic of these chronic medical conditions. Therefore, we need to be cautious about interpreting these psychiatric symptoms as causal. Likewise, peripheral nerve damage is a common feature in these chronic conditions, which research suggests may have a lower threshold for excitation in reaction to neuromodulators than the healthy nerve. Therefore, physical symptoms may be easily top-down “neuroreactive” but not truly “psychosomatic.” The pathology is still within the peripheral tissues, not the result of a psychiatric disorder.
In addition, any person who has suddenly lost her/his health, mobility, etc., would be pathological if she/he were NOT devastated and over-focused on her/his sudden disability. This is a normal, healthy reaction to a major and traumatic loss.
CONFLICT OF INTEREST: None Reported
Hi, Agatha. 🙂 I’m really glad my comment resonated so well with you. Interestingly, that comment led to an invitation to do a presentation on long COVID a few months ago for a group of clinicians (mostly doctors). Unfortunately, as I spoke much of ME/CFS and mast cell disorders, it did not go over well. If you’re interested in watching it, as it may have some useful information for you, I think the video is still available here: https://umontana.zoom.us/rec/play/CHW4YRDIOWys3HbTlsDTBY0fyPbp-JoyyjyRCSdMu_FrNR3676ZaB0Tmzq16ny2yhfCug9XFG1EResR-.TgEY-6IreD5ZQt2c?continueMode=true&_x_zm_rtaid=r8zXr06YQd6uRbZnlyNo9g.1607650534283.14d215838e272f18aab8445c0f7e490a&_x_zm_rhtaid=857
The feedback I had received from the chronic illness community was overwhelmingly positive; the feedback from the doctors was very negative (and actually quite rude). So, I think it speaks to the lengths we still have to go in shifting medical dogma about these inter-related conditions and women’s health.
Although I don’t have specific recommendations for treatment of your post-covid syndrome, some of the mast cell medications I mention in the video may be useful, as it seems there’s often an underlying immune component to ME/CFS (although I gather that is not a popular notion in the ME/CFS community?).
What are the primary symptoms you’re dealing with now following the infection?
Hello Dr. Casanova, We live in Greenville, SC too, and wondered if you knew of a doctor locally who can diagnose EDS in adults? I believe my adult daughter may have EDS based on her symptoms and the connection to MCAS. She’s recently been prescribed Cromolyn Sodium for treating possible MCAS, which seems to be helping her mast cell symptoms along with her other meds, but now I’m concerned with her increasing crushing pain and swelling in her hands and feet, which she says feels like her bones are breaking. She’s also having difficulty using both. Her immunologist/allergist that she saw virtually for the first time a month ago doesn’t seem to be too concerned about her getting an EDS evaluation so unsure if we should pursue it at all or especially now with Covid going on, since we both have health issues. But, based on her symptoms and everything that I’ve read about EDS I really think she does have this, along with the MCAS, which those symptoms started over a year ago. Thanks for any help! Cassie
Hi, Cassie. Sorry for the late reply. I had been trying to find someone to recommend. Unfortunately, Greenwood Genetic Center stopped taking EDS referrals (except for people suspected of vEDS). It’s a bit of a drive, but you may be able to find a diagnostician in Charleston, which has more folks who study and treat EDS down there. I’ll let you know if I find anyone else a bit closer to home!
Thanks for responding! My daughter’s PCP sent a referral and notes to their Greenville office last week so waiting to hear back for an appt., after they review everything. When my daughter called their office to see about insurance and fees, they didn’t mention anything about only seeing patients with possible vEDS. So, maybe they make that determination after the review? If you hear of another EDS doctor or know of someone locally who diagnoses MCAS for a second opinion, please let me know. Thanks for your efforts!
Will do! One of the few docs in the area who does MCAS is John Pulcini (I see him as well). I wouldn’t say he’s a “good” MCAS doc, but there’s little to choose from here. I’m not super fond of him, he can be a bit of an ass. But I will say I *ADORE* his nurse practitioner, NP Ekman. She’s awesome and will spend ages with you discussing issues if needed. So, even though I saw Pulcini for the first visit, I preferentially see her for my regular checkups. She’s great!
Thanks for the tip about NP Ekman! She did see Pulcini once, and he told us that some doctors won’t recognize MCAS plus it’s hard to prove, but he started her on Cromolyn bid anyway just to see if it would help her symptoms, which it has helped her a lot so far. She’s supposed to see him again sometime to give an update. He seemed concerned at the time, but I had my doubts about him just like all the many other doctors she’s seen so far. So, not sure if it means she does have some form of mast cell disease since the Cromolyn has helped or would it also help for regular allergies too? But then again she was told by a different allergist that she doesn’t have any allergies now even though she reacted to many allergens during her skin prick test, and one reacted worse than the control. Initially he told her to stay away from those allergens and she would never need an Epipen, but he prescribed one anyway just to humor her. She also asked her gastro doctor a few months ago if he could order a mast cell staining on some GI biopsies taken from her colonoscopy last year, which the mast cells were slightly increased with a CD25+. The GI doctor recommended she see a hematologist since this was out of his scope, which she did. She saw a hematologist/oncologist that investigated the slides more in depth and determined she didn’t have SM due to the low amount of CD25+ mast cells per field and they were not spindly. The hematologist referred her back to the immunologist/allergist. Also, her tryptase serum was low, but I wonder if that was an accurate result since I read that 10% of results are false negative and can be affected by antihistamines, which she’s taking a lot of. The hematologist didn’t agree to that suggestion. My daughter also has small hives all over her body and a raised rash or a large hive on her hands that won’t go away and is spreading. Heat and friction causes it to react. She saw the dermatologist virtually, and was treated for eczema. The cortisone helped somewhat, but as soon as she stopped using it the rash returned full force on the top and palms of her hands with swelling, pain, and deep splitting. I have eczema on my hands and wrists too that can get bad, but hers looks different and worse. If she doesn’t have some form of SM or MCAS then I’m wondering if she has Cutaneous Mastocytosis.
My daughter seems to have fallen somewhere between the cracks for any one of these diseases, but she definitely has been having something very real for the past 2 yrs up to the point of anaphylactic shock last July from a combination of a mosquito bite, heat, and potting soil, which had coconut in it. Coconut is one of her allergies or a severe trigger. The potting soil had Coir in it which at the time we didn’t know it was coconut. She had gotten it all over her body coupled with the bite and heat that started a reaction that night up until it finally toned down several months later. She should have used her epipen and gone to the hospital initially, but because of us possibly getting Covid she was afraid she would be put on a ventilator and I’d get sick too. She still hasn’t gotten back to pre-attack mode even up to now even with the many antihistamines and asthma meds she takes, but at least the Cromolyn is helping her feel somewhat normal except for the hand/hive issue. Hopefully we’ll get some answers soon and the Cromolyn will work better, Lord willing.
Btw, I saw that “Allergy Partners of the Upstate” in Greenville treated mast cell disease and had an article about MCAS. I wonder if they’re a good choice for a second opinion? My daughter went there years ago for a possible nut allergy and asthma, and we really liked the doctor, but he’s no longer with them. They don’t have good reviews now so my daughter is kind of hesitant to see them. Here’s a link to the article on their website…https://www.allergypartners.com/upstate/mast-cell-disorders/
Thanks for any input!
She definitely sounds MCAS-y. And provided it isn’t SM, the same treatments are likely going to help anyways, whether it’s MCAS or cutaneous. But if she’s had episodes of anaphylaxis, I would lean towards MCAS. What other MCAS meds is she on? Cromolyn can be really helpful, although there’s other Rx and OTC meds that are good to use in combination. MCAS usually does better with polypharmacy. It sounds like she’s already on some of them (antihistamines and cromolyn). But it’s recommended for masties to use a combo of H1 and H2 antihistamines (H1s are the usual ones you think about like Zyrtec, Allegra, or Benadryl) and H2s are meds like Pepcid. Often times, masties may need higher doses. For myself, as an example, I take twice the normally recommended daily dosage (once in the morning, once in the evening). The mast cell stabilizers are good (cromolyn, quercetin). Leukotriene antagonists like Singulair can also be helpful, although they can sometimes cause neuro affects like anxiety/depression, especially for a period of time while the body is adjusting, so one needs to be a little cautious with those. NSAIDs are also commonly used, especially for those who aren’t sensitive to things like ulcers, etc. Turmeric can be another good anti-inflammatory option. And even some neuro meds like benzodiazepines can be useful, because mast cells have a lot of neuroreceptors and often respond to these types of meds (it’s why mast cells can spazz out when a person gets emotionally upset). In general, the older antihistamines like Benadryl and Hydroxyzine, which tend to have more sedating effects, also tend to act faster and are heavier hitters, so a lot of folks will keep those as rescue meds and just use the new antihistamines like Allegra and Zyrtec as their daily foundation. If you’re interested, there’s a wealth of information in the book by Dr. Lawrence Afrin called “Never Bet Against Occam.” It’s a long book and perhaps not the best edited (I think he did it himself), but it has a LOT of great info on MCAS. If you ever get desperate enough, Afrin or Anne Maitland, both up in NYC, are expert physicians in the field. I’m not sure about Maitland, but with Afrin you have to pay out of pocket, but both of these docs know MCAS through and through so you know what you’re getting. Afrin is an excellent doc, although his bedside manner can sometimes be hit or miss. Maitland on the other hand is a sweetheart, super nice lady.
Hello, She’s currently taking…
Once daily-Zyrtec, Montelukast, Omeprazole, Flonase nasal spray
BID-Cromolyn ampules, Fexofenadine, Gabapentin
Rescue-Benadryl and Xopenex inhaler
Fluticasone cream-for hands
Once daily-Vit D, Iron, Folic acid
Her main triggers are Wheat, Soy, Sesame, Coconut/Palm/derivatives, Tree nuts, Garlic, Squash family, Lima beans, River birch trees, and Mold. Plus insect bites, heat, smoke, pollen, stress, and maybe more that she’s not aware of. She’s also not absorbing some vitamins or iron. The Cromolyn has been helping a lot with her diarrhea and the overall feeling of inflammation so she’s not having to take the Pepcid as often, but it’s not covering all of her other symptoms up to this point. Advil seems to help some, but she’s a little wary of taking too much because of the SLS in it, which is made from coconut or palm, and she’s tried the Turmeric, but started having more intestinal issues so she stopped eating it for now, but plans on adding it back later on. Dr. Pulcini told her she can take the Cromolyn TID before she sees him again so she plans on doing that at some point. He didn’t say if he’s going to add new meds later on like what you’ve mentioned, but I’ve read too that all forms of mast cell disease are pretty much treated the same. I guess our main objective at this point is wanting to know which form she actually has. She’s thinking about seeing her dermatologist to get a scraping or biopsy of her hand rash if this would give a CM diagnosis, but wondering if it’s really worth her going now with Covid going on since she’s already taking everything. The cream is helping, but I don’t like her having to use it continuously, but she may have to regardless of the diagnosis. She has read some stuff by Dr. Afrin, and I inquired about his fee, but he’s too pricey and far away.
Another odd thing happened to her last fall so unsure if it’s MCAS or EDS related. I thought she was having a seizure, but it didn’t seem quite the same from what I know about seizures. The attack would begin about an hour after she ate lunch, beginning with her having an odd, foggy feeling and not being able to concentrate on her work at the computer. Then she’d start having uncontrollable body movements like Chorea along with her head drooping, drooling, crying a little, making inaudible sounds, and eyes rolling. I’d try to talk to her, but she wouldn’t respond. She wasn’t unconscious, but she seemed checked out. This would normally last about 30 min, but during one episode it lasted about 2 hrs while she laid on the floor holding a pillow tightly to help control her body movements. She couldn’t walk either. When I tried to talk to her during that particular episode she couldn’t reply most of the time, but when she was able to it was through clenched teeth while her head and eyes rolled from side to side. I contacted her neurologist, but she didn’t think it was a true seizure. She’s already on Gabapentin so wondered about that too. I thought maybe it was due to something she had eaten and mast cell related so she stopped eating those lunch items. At first I thought it was orange juice, which is a histamine releaser, or tomatoes since they’re high in histamine, but after she eliminated them plus the other items she was still having the attacks. Later on she remembered she had been drinking a lot of the blue Gatorade and eating an occasional handful of M&M’s. She eliminated them too, and the attacks stopped. Then she added the Gatorade and M&M’s back without the other foods, and sure enough the attacks returned. After she stopped eating foods with dyes she hasn’t had any more attacks. Plus she’s trying to avoid meds with dyes too. Would you know if this could be connected to MCAS or EDS? It’s definitely something new for her since she’s never had this happen before with food dyes.
Thanks for your past input, and have a blessed day!
That’s good, it sounds like she’s on a lot of the MCAS meds already. You can also ask Pulcini or his NP about upping the Zyrtec to twice daily, provided it doesn’t make her groggy. If it does, Allegra can sometimes be better and doesn’t cause the as much sedation. Also, the Famotidine (Pepcid) may be good to use daily rather than PRN since it sounds like she has a lot of GI issues, so hitting those H2 histamine receptors in the GI tract may complement the cromolyn, so I would suggest running that by Pulcini etc. as well. It’s good to use all of those meds regularly (H1/H2 antihistamines, mast cell stabilizers, etc.) and as a foundational basis and then tag rescue meds on top of it when it’s needed.
The seizure-like episode is a tough one. Honestly, I would seek a second opinion from another neurologist. Sometimes it can be hard to catch seizure activity, so without wearing a monitor during an actual episode, they may not be caught (unless the person just has an abnormal resting EEG). Truthfully, I don’t trust ANY neurologist that just says, “That doesn’t sound like a seizure,” without doing a physical and running any actual tests (e.g., doing a sleep deprivation EEG, etc.). It could have alternatively been muscular spasms, which definitely do also happen with the EDS/MCAS/POTS triad. Sometimes they can be hard to tell whether they’re neurogenic, cardiogenic (which can happen with POTS), or muscular. But considering it sounds like you’ve identified the major triggers, that’s at least reassuring. But the fact that you describe her as “checked out” sounds more seizure-like that muscular to me as it could suggest changes to level of consciousness (which was implicate brain involvement). But then again, that’s just my non-medical opinion.
Yes she’s pretty good about taking her meds faithfully since she knows she’ll feel a lot worse if she forgets to. The pepcid was added in temporarily by the previous PA allergist due to last July’s situation so nothing was said about her taking it daily, but she’ll ask Pulcini about it with the other meds that you’ve mentioned.
On the Neurologist, I meant to say it was the Neurologist’s PA that told us she didn’t think it was a true seizure at the beginning of the appt, but towards the end she did suggest some kind of seizure monitor. At the time Covid cases were extremely high so my daughter decided to wait a while before making the appt., but in the meantime we figured out it was the food dyes causing the seizure-like episodes so it didn’t seem necessary anymore to do the monitor unless they returned. My daughter told me last night she has felt a hint or sensation of the seizure-like episode a few times in her head again, but it quickly faded away. She’s still having the foot pain and walking issues along with not being able to unbend some of her fingers occasionally so I’m assuming it’s EDS related because those issues are unlike the other and were happening prior to the seizure-like episode. I looked up seizures on Youtube, and it seems like her issues are more similar to Dystonia than Chorea because of her facial grimaces with the grunting noises. About her seeming to be checked-out, she said she’s aware of her surroundings and can hear me when I’m talking to her, but she’s just not able to respond to me during the episode attack. She did read that Dystonia or Chorea can go along with EDS. It’s all so confusing, but we’re grateful there are meds to help.
My daughter wanted me to tell you she’s very grateful for your input, and has enjoyed reading your blog! Her name is Emily too!
Hi Dr. Casanova,
I have a 28 year old daughter with both “high functioning”autism and H-EDS with associated POTS and MCAS. I’ve been diagnosed with HJS. I was on staff with the Aspergers/Autism Network (AANE) up until two years ago when I had to leave because of my daughter’s medical needs. Before leaving, however, I noticed that among our clients, there was an unusually high number who also had EDS. When I had my genetic testing at Mass. General, I asked the geneticist whether this had ever been studied and was told (in no uncertain terms) that there was no relationship and that she would know because she also consulted at the Lurie Center for Autism and had never seen it.
I wrote a short piece about my daughter’s experience for the AANE newsletter and have since heard of more cases of EDS among our (mostly New England based clients). I’ve just read the papers that you’ve published on this subject and am very intrigued. I am a school psychologist by training and developed a specialization in autism early on in my career. Are you aware of any support groups for people with both EDS and autism? As a parent I find it incredibly difficult to tease out what is happening with my daughter on a day to day basis. She is struggling to finish college and to hold down a job and while her father and I know that she is intellectually capable, we don’t know how capable she is physically. Despite Boston being known for its medical expertise, there is no one here who specializes in EDS, never mind the intersection of Autism and EDS. Any suggestions for that?
Hi, Debbie. That’s a tough one! I don’t personally know of any EDS/autism support groups, but honestly if you were interested in starting one I imagine you’d get a fair amount of takers. As you can tell, despite what the geneticist as MG said, we’re definitely seeing a relationship. I think the main issue is that the EDS/HSD goes unrecognized many times. It’s also difficult, as I’m sure you know, sometimes finding a diagnostician for EDS/HSD. We’re really an underserved population. On the TEDS directory of healthcare professionals, I do see there are a few in MA, although none specifically in Boston. I’m not sure if the list would potentially be helpful to you. https://www.ehlers-danlos.com/healthcare-professionals-directory-usa/#ma
For now, it’s going to be harder to find clinicians who specialize in that cross-section you’re looking for. But starting a support group could be really helpful. After all, when it comes to conditions like EDS, MCAS, and POTS, we all seem to learn more from each other than from clinicians anyways! 🙂
I am very interested in your research. We always knew that EDS or something similar runs in our family. It’s seems to to have autosomal dominant inheritance. We also just realized that multiple family members are on the spectrum as well with my youngest son only 2y old having the most significant presentation for Autism. I have 5 children all with various presentations and degrees of neuro and conective tissue diversity. We also have autoimmune disorders as well as autonomic disregulation. As well as a case of achiary malformation that may have also been passed down a generation. I never realized all those things could tie together until now. Is there anyone who can help us figure out what kind of genetic mutation is present in our family that is causing all of this issues? Maybe solving this puzzle could help other families who have a similar condition.
Hi! The most common type of EDS is Hypermobile EDS (hEDS), which doesn’t currently have any known associated gene mutations. The Ehlers-Danlos Society is sponsoring a study to do whole genome sequencing on people with a diagnosis of hEDS, but I think the pandemic has severely slowed down the progress of the study. So, it’s hard to say when the results will be published. I suspect, because hEDS is likely a common (rather than rare) condition, most people won’t have rare gene mutations but it may be more of an issue of the influence of multiple common gene variations (autism is very similar in this way; only a minority have rare mutations). However, it’s not a bad idea to rule out other forms of EDS and one would usually do that with a geneticist at a genetics clinic. I’m not sure what might be available in your area but you could ask your primary care physician if there’s any place locally you could be referred to. I can’t guarantee they’ll accept the referral, however. There is a growing trend for genetics clinics to stop accepting hEDS referrals since they’re receiving so many of them. Hope the info helps!
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